A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643290



Internal ID7030059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79088460..79140822hg38UCSC Ensembl
Innerchr18:79088460..79140822hg38UCSC Ensembl
Outerchr18:79087960..79141322hg38UCSC Ensembl
chr18:76848460..76900822hg19UCSC Ensembl
Innerchr18:76848460..76900822hg19UCSC Ensembl
Outerchr18:76847960..76901322hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3852363
hg1952363
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15955983, essv15955985, essv15955984
SamplesNA06984, HG03061, HG02896
Known GenesATP9B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643290
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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